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Eur J Haematol. 2013 Dec;91(6):557-60. doi: 10.1111/ejh.12186. Epub 2013 Sep 18.

Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia.

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Department of Paediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.


Ataxia telangiectasia (AT) is a rare autosomal recessive multisystem disorder characterised by cerebellar degeneration, immunodeficiency and cancer predisposition. Around 10% of AT patients develop lymphoid malignancies, but the development of myeloid leukaemia with AT (AT-AML) is extremely rare, and there have been no previous publications regarding suitable therapies. Here, we first describe a successful therapeutic experience in a patient with AT-AML (FAB-M1) who attained remission after induction therapy and maintained stable disease for a year. To minimise therapy-induced toxicity, low-dose induction was applied first, though this was obviously insufficient and the patient subsequently responded well to dose-intensified short-term chemotherapy. In this report, we suggest a curative therapeutic approach for AT-AML, though the issue of how best to manage patients with cancer complicated by immunodeficiency remains undecided.


acute myeloid leukaemia; ataxia telangiectasia; reduced-dose chemotherapy

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